FAM161A

Chr 2

FAM161 centrosomal protein A

Also known as: RP28

NCBI Gene: 84140ENSG00000170264UniProt: Q3B820

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 28

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
LOEUF
LOF
Mechanism· G2P
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GeneReview available — FAM161A
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.49
OE 0.72 (0.52–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.49Z-score
OE missense 1.07 (0.99–1.17)
388 obs / 361.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.72 (0.52–1.01)
0≤0.351.4
Missense OE?1.07 (0.99–1.17)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 24 / 33.3Missense obs/exp: 388 / 361.5Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM161A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients